Pierquin, Geneviève

Top Publications

Top Publications Authored or Co-Authored by "Pierquin, Geneviève"

• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

  Human Mutation, Volume 39, No. 3, Year 2018, Citations 54
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

  Clinical Genetics, Volume 87, No. 3, Year 2015, Citations 50
• Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors

  Cancer Genetics and Cytogenetics, Volume 182, No. 1, Year 2008, Citations 30
• Spinocerebellar ataxia type 2 (SCA2): Clinical features and genetic analysis

  Journal of Tropical Pediatrics, Volume 54, No. 5, Year 2008, Citations 14